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Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 634, doi. 10.1002/ajmg.a.61052
By:
- Angius, Andrea;
- Uva, Paolo;
- Oppo, Manuela;
- Persico, Ivana;
- Onano, Stefano;
- Olla, Stefania;
- Pes, Valentina;
- Perria, Chiara;
- Cuccuru, Gianmauro;
- Atzeni, Rossano;
- Serra, Gigliola;
- Cucca, Francesco;
- Sotgiu, Stefano;
- Hennekam, Raoul C.;
- Crisponi, Laura
Publication type:
Article
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
Published in:
BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0745-7
By:
- Alves, Rita Maria;
- Uva, Paolo;
- Veiga, Marielza F.;
- Oppo, Manuela;
- Zschaber, Fabiana C. R.;
- Porcu, Giampiero;
- Porto, Henrique P.;
- Persico, Ivana;
- Onano, Stefano;
- Cuccuru, Gianmauro;
- Atzeni, Rossano;
- Vieira, Lauro C. N.;
- Pires, Marcos V. A.;
- Cucca, Francesco;
- Toralles, Maria Betânia P.;
- Angius, Andrea;
- Crisponi, Laura
Publication type:
Article
Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 607, doi. 10.1111/cge.13532
By:
- Angius, Andrea;
- Uva, Paolo;
- Oppo, Manuela;
- Buers, Insa;
- Persico, Ivana;
- Onano, Stefano;
- Cuccuru, Gianmauro;
- Van Allen, Margot I.;
- Hulait, Gurdip;
- Aubertin, Gudrun;
- Muntoni, Francesco;
- Fry, Andrew E.;
- Annerén, Göran;
- Stattin, Eva‐Lena;
- Palomares‐Bralo, María;
- Santos‐Simarro, Fernando;
- Cucca, Francesco;
- Crisponi, Giangiorgio;
- Rutsch, Frank;
- Crisponi, Laura
Publication type:
Article
Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis.
Published in:
Journal of Bone & Mineral Research, 2017, v. 32, n. 1, p. 99, doi. 10.1002/jbmr.2929
By:
- Palagano, Eleonora;
- Susani, Lucia;
- Menale, Ciro;
- Ramenghi, Ugo;
- Berger, Massimo;
- Uva, Paolo;
- Oppo, Manuela;
- Vezzoni, Paolo;
- Villa, Anna;
- Sobacchi, Cristina
Publication type:
Article
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.
Published in:
Journal of Bone & Mineral Research, 2015, v. 30, n. 10, p. 1814, doi. 10.1002/jbmr.2517
By:
- Palagano, Eleonora;
- Blair, Harry C;
- Pangrazio, Alessandra;
- Tourkova, Irina;
- Strina, Dario;
- Angius, Andrea;
- Cuccuru, Gianmauro;
- Oppo, Manuela;
- Uva, Paolo;
- Van Hul, Wim;
- Boudin, Eveline;
- Superti-Furga, Andrea;
- Faletra, Flavio;
- Nocerino, Agostino;
- Ferrari, Matteo C;
- Grappiolo, Guido;
- Monari, Marta;
- Montanelli, Alessandro;
- Vezzoni, Paolo;
- Villa, Anna
Publication type:
Article

Found: 5

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.

Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses.

Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis.

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.